Ozan Aldemir

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The patient is a 2.8 years old male who is extremely obese and severe hyperphagic from birth. He had seizures attacks and apnea from the second week of his life. He has red hair and serum cortisol and ACTH levels are very low. We examined our patient as a hypocortisolism due to ACTH deficiency and central hypothyrodism. After the corticosteroid replacement(More)
Inherited lysosomal storage diseases (LSDs) are rare, and diagnosis is often delayed for 7–10 years. Since the therapies have become available for a limited number of LSDs, (Fabry, Gaucher, Pompe, and MPS-1), early diagnosis of treatable LSDs can be lifesaving or ameliorating and allows timely treatment before irreversible damage occurs. Recently, the use(More)
Ring chromosome 9 in a newborn: Ring chromosome 9 is a rare genetic disorder observed in the children with variable clinical presentation and phenotype. Among several ring formation, individuals with r(9) generally have less distinct clinical features. We examined in a newborn patient with trigonocephaly, upward-slanting palpebral fissures, small face,(More)
Mowat-Wilson syndrome is a genetic disease characterized by typical facial features, Hirschsprung disease and multiple congenital abnormalities. MWS is a single gene disorder. One of the most specific clinical signs in MWS is the distinctive face. We report a two-year-old boy with multiple congenital anomalies. He had peripupillary atrophy and gingival(More)
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